Journal of the Neurological Sciences
Volume 291, Issue 1 , Pages 30-36, 15 April 2010

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

  • Elide Mantuano

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    • ,
  • Silvia Romano

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Liana Veneziano

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    • ,
  • Cinzia Gellera

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Barbara Castellotti

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Sara Caimi

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Daniela Testa

      Affiliations

    • Unit of Neuropathology, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Margherita Estienne

      Affiliations

    • Child Neurology Dept., Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Giovanna Zorzi

      Affiliations

    • Child Neurology Dept., Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Marianna Bugiani

      Affiliations

    • Child Neurology Dept., Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • ,
  • Yusuf A. Rajabally

      Affiliations

    • University Hospitals of Leicester, UK
    • ,
  • Maria J Garcìa Barcina

      Affiliations

    • Genitiva Unitatea, Basurtuko Ospitalea, Osakidetza, Bilbao, Spain
    • ,
  • Serena Servidei

      Affiliations

    • Department of Neuroscience, Catholic University, Rome, Italy
    • ,
  • Aurora Panico

      Affiliations

    • Servizio di Neurologia-Noale, Venice, Italy
    • ,
  • Marina Frontali

      Affiliations

    • Institute of Neurobiology and Molecular Medicine, CNR, Rome, Italy
    • ,
  • Caterina Mariotti

      Affiliations

    • Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione-IRCCS, Neurological Institute Carlo Besta, Milan, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 02 23942269; fax: +39 02 2664236.

Received 30 September 2009; received in revised form 2 December 2009; accepted 12 January 2010. published online 03 February 2010.

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PII: S0022-510X(10)00036-5

doi:10.1016/j.jns.2010.01.010

Journal of the Neurological Sciences
Volume 291, Issue 1 , Pages 30-36, 15 April 2010

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